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首页> 外文期刊>Case Reports in Genetics >3p14 De Novo Interstitial Microdeletion in a Patient with Intellectual Disability and Autistic Features with Language Impairment: A Comparison with Similar Cases
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3p14 De Novo Interstitial Microdeletion in a Patient with Intellectual Disability and Autistic Features with Language Impairment: A Comparison with Similar Cases

机译：患有语言障碍的智障和自闭症患者的3p14 De Novo间质微缺失：与类似病例的比较

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To date, few cases of 3p proximal interstitial deletions have been reported and the phenotype and genotype correlation is not well understood. Here, we report a new case of a 3p proximal interstitial deletion. The patient is an 11-year-old female with speech and social interaction difficulties, learning disability, and slight facial dysmorphism, but no other major malformations. An 8 Mb de novo interstitial deletion at 3p14.2-p14.1, from position 60.461.316 to 68.515.453, was revealed by means of array comparative genomic hybridization and confirmed using quantitative reverse-transcription polymerase chain reaction assays. This region includes six genes:FEZF2, CADPS, SYNPR, ATXN7, PRICKLE, andMAGI1, that are known to have a role in neurodevelopment. These genes are located on the proximal side of the deletion. We compare our case with previously well-defined patients reported in the literature and databases.
机译：迄今为止，已经报道了少数3p近端间质缺失的病例，并且表型和基因型的相关性还没有被很好地理解。在这里，我们报告3p近端间隙删除的新情况。该患者是一名11岁的女性，患有言语和社交互动障碍，学习障碍和轻微的面部畸形，但没有其他主要畸形。通过阵列比较基因组杂交揭示了从位置60.461.316到68.515.453在3p14.2-p14.1处的8bMb从头间隙缺失，并使用定量逆转录聚合酶链反应法进行了确认。该区域包括六个基因：FEZF2，CADPS，SYNPR，ATXN7，PRICKLE和MAGI1，它们在神经发育中起作用。这些基因位于缺失的近端。我们将我们的病例与文献和数据库中报道的先前明确定义的患者进行比较。

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